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Alopecia is a common finding in myotonic dystrophy type 1 (MD1) but it is usually restricted to the fronto-temporal areas (frontal baldness). Alopecia also of other areas of the scalp has not been reported as a dominant feature of the disease. The patient is a 54yo Caucasian female with a history of myotonia of all toes bilaterally since childhood, recurrent falls since at least 15a, disturbed fine motor skills since at least 15a, and progressive gait disturbance fro m distal weakness with a foot drop and abortive stepping gait such that walking over steps was possible only with holding the handrail. She also reported multiple atheromas on the scalp since 15-20y, dysphagia since 10y, cholecystectomy, easy tiring, and exercise intolerance. She had undergone cataract surgery bilaterally some years ago. Since 2-3 years prior to the last visit she had developed extra-fronto-temporal alopecia to such a degree that she was wearing a wig since age 53y. Her family history was positive for MD1 in her oldest daughter and her son, her two sisters and her brother. Two of her children were unaffected. Clinical neurologic examination revealed a myopathic face, atheroma over the scalp, alopecia over the entire scalp (Figure 1), slight bilateral ptosis, weakness for lid closure, slight weakness for finger straddling on the upper limbs, diffuse weakness of the lower limbs with distal and right-sided predominance, reduced tendon reflexes on the upper as well as lower limbs, and discrete distal wasting on the lower limbs. She was unable to walk on her heels but also toe-walking was slightly impaired. There was recurrent mild hyper-CK-emia with a maximal value of 279 U/L (n, < 146 U/L). Serum testosterone was 0.13 ng/mL (n, 0.06-0.8 ng/mL). Other hormones, such as follicle stimulating hormone, luteinizing hormone, prolactin, estradiol, progesterone, and thyroidea stimulating hormone were also within normal limits. Needle electromyography revealed the typical myotonic and pseudomyotonic discharges in all muscles investigated. Molecular genetic investigations revealed an abnormal, expansion of 500 CTG-repeats within the DMPK gene on chromosome 19q13.3. 24h-ECG showed sinusrhythm throughout the entire recording, one pause of 2.4ms, and only occasionally ventricular or supraventricular ectopic beats. Abdominal ultrasound showed mild steatosis hepatis. Echocardiography was normal. Videocinematography at age 52y was normal.

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2011-07-11   |   1,620 visitas   |   Evalua este artículo 0 valoraciones

Vol. 63 Núm.3. Mayo-Junio 2011 Pags. 322-324 Rev Invest Clin 2011; 63(3)